DATACC BY DIME PROJECT

Defining core digital measures for
Pediatric rare disease research & care

Common data elements & ontologies

Consistent data standards are essential for advancing research and care in pediatric rare diseases. By aligning on common data elements, shared ontologies, and terminologies, we can enable true interoperability across registries, natural history studies, data platforms, and clinical workflows.

Read more in the industry brief to help tailor your data collection for future sharing and interoperable use. This industry brief outlines the rare disease data ecosystem, including key data standards, platforms, and networks. It also presents an implementation-ready common data elements (CDE) framework, along with adoption considerations for diverse stakeholders.

Download Industry Brief

Measure ontologies

To ensure consistent data naming and structure across collection, processing, and sharing, the table below provides you with a curated set of established ontologiesfor each of the core measures to standardize your data coding.

We welcome your expertise. If you have a resource or ontology to recommend for inclusion, please reach out to our team.

Activity, mobility & motor function

	Stability & balance	Gait	Ambulation volume	Postural mobility	Contextual ADL-like events	Upper limb functional performance	Feeding performance & independence
Applicable ontologies for phenotypes and measured outcomes in respective concepts
SNOMED-CT (clinical documentation focus)	Findings of balance	Findings of gait	—	Findings of balance	Finding of activity of daily living	—	Eating, feeding and drinking abilities – findings
HPO ontology (phenotype focus)	Impaired balance	Gait disturbance	—	Abnormality of posture	Fine motor impairment	Upper limb weakness	Feeding difficulties Dysphagia
SPHERE ADL ontology (functional behavior focus)	—	—	Includes an Ambulation class (e.g., walking, running, stairs).	Includes classes for physical state, categorizing posture (e.g., standing, sitting, lying) and transitions (e.g., stand-to-sit).	Catalogs specific instrumental ADLs (IADLs).	—	Models ADLs including self-feeding and meal-related activities.
DiMe: Core measures of physical activity (digital measurement focus)	Ontology: postural sway	—	Ontology: walking bout at specified bout durations Ontology: Step count	Ontology: Postural sway	—	—	—
Domain specific ontologies	Kinetic Human Movement Ontology (KHMO)	Gait Analysis Domain Ontology (GADO)	—	—	Classification of Everyday Activities (COEL) model A simple ontology of manipulation actions based on hand–object relations	BioSignalML ontology SAREF4WEAR DAHCC sensors and wearables ontology	Ontology for Nutritional Studies (ONS)
Shared databases & tools
Databases & tools	Mobilise-D: SPPB (Short Physical Performance Battery)	HuGaDB (Human Gait Database)	—	—	Human grasping database for ADLs	—	International Dysphagia Diet Standardisation Initiative (IDDSI) framework

Thinking, behavior & communication

	Age-appropriate cognitive test battery	Spontaneous language performance	Intelligibility
Applicable ontologies for phenotypes and measured outcomes in respective concepts
SNOMED-CT (clinical documentation focus)	—	—	Intelligibility of articulation
HPO ontology (phenotype focus)	Cognitive impairment	Expressive language delay	Dysarthria
OLiA (Ontologies of Linguistic Annotation (linguistic data focus)	—	Morphosyntactic categories + annotation scheme mappings (POS tags, morphology, syntactic functions, etc.)	Definition of “word”, “utterance”, morphosyntactic units
Domain specific ontologies	Cognitive Atlas (COGAT) Cognitive Paradigm Ontology (CogPO) NeuroPsychological Testing Ontology (NPT) Neurocognitive Integrated Ontology (NIO)	—	—
Shared databases & tools
Databases & tools	NIH toolbox for assessment of neurological and behavioral function	TalkBank/CHILDES	—

Sleep, seizures & acute medical events

	Core measures of sleep	Clinical seizure/acute medical event event burden	Passive sensor signals
Applicable ontologies for phenotypes and measured outcomes in respective concepts
SNOMED-CT (clinical documentation focus)	Findings related to sleep	Seizure observable	—
HPO ontology (phenotype focus)	Sleep disturbance	Seizure	—
Domain specific ontologies	DiMe: Core measures of sleep (measure ontologies)	Epilepsy and Seizure Ontology (EpSO)	BioSignalML ontology SOSA / SSN (W3C/OGC) + SAREF4WEAR / SAREF4EHAW ECG ontology EEG ontology Vital sign ontology
Shared databases & tools
Databases & tools	NSRR (National Sleep Research Resource)	TUH (Temple University Hospital) EEG seizure corpus	—